I am currently working on a project to improve the care of people living with rare diseases. Specifically, I’m leading a team to build a digital platform that maps out care pathways for people with rare diseases. The aim of the project is to enable patients, their families and healthcare providers to understand what intervention, treatment or consultation is needed at each step along the patient journey.
For any single rare disease, by the very definition, only a small number of people are affected by it. But there are thousands of rare diseases, and in Ireland it’s estimated that as many as 300,000 people live with a rare disease.
Often when a person is diagnosed with a rare condition, their care needs are complex and multisystemic, and they need to see people from many different specialties across primary, community, and hospital-driven care settings - that might include GPs, cardiologists, neurologists, gastro-enterologists, endocrinologists, physiotherapists and occupational therapists. Their individual care pathways can be complex and hard to navigate. In fact, pathways for the vast majority of rare diseases have not yet been mapped, and many specialists may not be familiar with them.
With support from the Research Ireland Innovating in Health and Wellbeing Challenge, my team has started working to develop an interactive platform that will guide patients through their individual rare disease care pathways, and enable healthcare providers to map out the patient journeys that offer optimal care.
To map out these pathways, we are drawing on clinical practice guidelines as well as the expertise of clinicians and, crucially, the expertise of people living with rare diseases themselves and their families, through representative groups.
My background includes many elements that are useful for this project. I studied genetics for my undergraduate degree, before doing a PhD in bioinformatics. I then spent a few years working in leading bioinformatics institutes in the UK, before returning to Ireland to work in the National Rare Diseases Office and the Next Generation Sequencing Laboratory, both in the Mater Hospital. Whilst working in the National Rare Diseases Office, I helped to lead on a pilot project to map out care pathways for some of Ireland’s most prevalent rare diseases. When I moved to DCU to take up a position as Assistant Professor in Computational Biology in the School of Biotechnology in October 2025, I applied for funding to take that pilot project to the next level.
It is a highly collaborative project, and I am working closely with my colleague Dr Silvana MacMahon in DCU School of Computing, the National Rare Diseases Office, the HSE, healthcare providers and, most importantly, patient representatives. Furthermore, as a member of the DCU Life Sciences Institute, I know that I am in a supportive environment where I can draw on expertise and gain valuable insights from others.
Over the next 18 months, we plan to develop a digital prototype that can integrate into HSE digital systems. Ultimately, we hope to improve care for rare disease patients in Ireland by replacing complex, confusing, and nebulous processes with reliable, clear, accessible and understandable roadmaps.
Dublin City University
